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262 Possible Causes for Fingerpad Telangiectases, Mutation in the Endoglin Gene, Pharyngeal Hemorrhage

  • Hereditary Hemorrhagic Telangiectasia

    In addition, genetic linkage studies and/or mutation analysis identified endoglin as the disease-causing gene in 6 of these families.[pediatrics.aappublications.org] A genetic test, identifying the mutation in endoglin gene both in the patient and in the father, confirmed the suspected diagnosis of HHT.[ncbi.nlm.nih.gov] Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT.[ncbi.nlm.nih.gov]

  • Pharyngeal Disease

    […] diverticulum Perforation of pharynx Pharyngeal abscess Pharyngeal bursitis Pharyngeal diverticulitis Pharyngeal dryness Pharyngeal gag reflex positive Pharyngeal hemorrhage[icd9data.com] Posterior space abscesses cause swelling that is more prominent in the posterior pharyngeal wall. Trismus is minimal.[merckmanuals.com] It should be considered if the patient presents with pharyngitis and bilateral conjunctivitis especially if it is hemorrhagic (pharyngoconjunctival fever).[antimicrobe.org]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Throat Cancer

    Treatment Mayo Clinic doctors use the latest specialized radiation, chemotherapy, surgical and rehabilitation treatment options for throat cancer. Efficient, coordinated evaluations at Mayo Clinic allow surgeons and oncologists to start your treatment quickly, which increases the odds of successful treatment. Your[…][web.archive.org]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Carcinoma of the Larynx

    We present a case of an external laryngocele with laryngeal carcinoma. A laryngocele is a rare benign lesion of the larynx resulting from an abnormal dilation of the laryngeal saccule filled with air. When the neck of the laryngocele is obstructed, it fills with mucus and is called a laryngopyocele. There may be a[…][ncbi.nlm.nih.gov]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Carcinoma of the Tonsil

    Abstract The purpose of this study is to update our institution's experience with ipsilateral radiation therapy (RT) for squamous cell carcinoma of the tonsillar area. Outcome study of 76 patients treated between 1984 and 2012 with ipsilateral RT for squamous cell carcinoma of the tonsil. Patients had either cT1 (n[…][ncbi.nlm.nih.gov]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Pharyngeal Carcinoma

    Abstract The purpose of this study was to compare Tc(99m) MIBI SPECT imaging with computed tomography (CT) for assessment of post-radiotherapy treatment response in pharyngeal carcinoma. Twenty-two subjects took part in this study, which included six patients with nasopharyngeal carcinoma (Group I), three[…][ncbi.nlm.nih.gov]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Intratracheal Intubation

    […] en·do·tra·che·al in·tu·ba·tion passage of a tube through the nose or mouth into the trachea for maintenance of the airway during anesthesia, or for ventilatory support or for maintenance of an imperiled airway. endotracheal intubation the management of the patient with an airway catheter inserted through the[…][medical-dictionary.thefreedictionary.com]

    Missing: Fingerpad Telangiectases Mutation in the Endoglin Gene
  • Hereditary Hemorrhagic Telangiectasia Type 2

    telangiectases Small dilated blood vessels in fingerpads 0006107 Gastrointestinal angiodysplasia 0000471 Gastrointestinal arteriovenous malformation 0002629 Gastrointestinal[rarediseases.info.nih.gov] Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum. Mol.[nature.com] Cause: Mutations in one of the following genes: endoglin ENG , activin A receptor type II-like 1 ( ACVRL1 or ALK1 ), SMAD4 and perhaps other unidentified gene(s).[snpedia.com]

    Missing: Pharyngeal Hemorrhage
  • Pulmonary Arteriovenous Malformation

    The post-mortem molecular genetic analysis proved the presence of a disease-causing mutation in the endoglin gene constituting a predisposition for pulmonary AVMs.[ncbi.nlm.nih.gov] Clinical disease was documented in her mother and sister, both of whom had undergone genetic testing that identified a deletion mutation in the endoglin gene (ENG).[consultqd.clevelandclinic.org] Type 1 is caused by mutations in the endoglin gene and type 2 is caused by mutations in the ALK-1 gene, both of which encode proteins that are involved in the proper development[medicine.yale.edu]

    Missing: Fingerpad Telangiectases Pharyngeal Hemorrhage
  • Hyperglobulinemic Purpura

    McAllister KA, Baldwin MA, Thukkani AK, et al: Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect[medtextfree.wordpress.com] […] skin necrosis is characteristic Usually follows some acute infectious disease such as scarlet fever, strep pharyngitis, and meningococcal meningitis, varicella. 46 Purpura[slideplayer.com] […] reaction occurring most commonly in children after infectious illness Sudden appearance of large ecchymotic areas, esp. prominent over the extremities, progressing to acral hemorrhagic[slideplayer.com]

    Missing: Fingerpad Telangiectases